Sentence examples for underlying variant from inspiring English sources

This study aimed to identify the gene and the underlying variant responsible for the osteochondrodysplasia.

In Caucasians, one microsatellite and five SNPs were reported to capture the association[27] while all but one failed to show association in a T2D cohort from West Africa, namely rs7903146[45], thus also getting closer to the underlying variant.

For many of the loci implicated in metabolic disease, such as the ones flagged in GWAS, it is not always clear which underlying variant or gene is involved (27, 28).

This region of the gene represents a 0.15 Mb region of moderate LD, so it is possible that a single underlying variant, in LD with all of the SNPs that show significant association, accounts for the observed association in this region.

The search for underlying variants following a recessive pattern of inheritance did not generate any robust candidates.

When we applied BreakPointRead to the HK104 sequence traces, it identified 689 breakpoint reads suggestive of 635 underlying variants.

After correction for multiple testing, we found that nearly all of the underlying variants attained significance at FDR < 0.05.

The purported heteroduplexes were subsequently sequenced (Applied Biosystems 3730 xl DNA Analyzer; Applied Biosystems, Foster City, CA) to identify the underlying variants.

Another 9 cases (2 snip-SNPs and 7 medium indels) were significantly different but nonetheless showed the presence of underlying variants.

With this approach, we identified both common and rare variants underlying variation of flowering time in Arabidopsis.

The availability of such gene expression profiles may greatly facilitate the identification of the genetic variants underlying variation in such traits.